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Table 1 Clinical and molecular genetic characteristics of patients with IP-III malformation

From: Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III

Family

Patient

Age at detection (y)

Age at visit (y)

Hearing loss levela

Tympanogram

Other problems

Hearing intervention (side and age at which CIb or HAc was fitted)

POU3F4 variants (NM_000307)

01

1–1

0.5

4.2

L 85; R 60 dB nHL

A

/

HA (L + R, 1.7y)

c.962T > G (p.Val321Gly)

02

2–1

0.4

2.4

L 80; R 70 dB nHL

A

/

CI (L, 4.0y) + HA (R, 0.7y)

c.541C > T (p.Gln181*)e

03

3–1

0.4

2.3

L 65; R 65 dB nHL

A

 

CI (R,2.7y) + HA (L,0.5y)

c.699C > A (p.Cys233*)

04

4–1

0.5

2.1

L > 97; R 80 dB nHL

C

Mild autism

CI (L,4.5y) + HA (R,2.5y)

g.81548899_82006629delins

ACCAATTGGTAGTACAAT

05

5–1

0.6

3.8

L 60; R 65 dB nHL

A

/

HA (L + R, 3.8y)

c.644T > G (p.Val215Gly)e

 

5–2

3.4

23.5

L 65; R 67.5 dB HL

A

/

HA (L + R, 14.0y)

c.644T > G (p.Val215Gly)e

06

6–1

0.5

0.5

L > 97; R > 97 dB nHL

A

/

CI (R, 1.0y)

g.81806051_82292259del

 

6–2

3.6

67.2

L 106; R 107.5 dB HL

A

/

None

g.81806051_82292259del

07

7–1

0.5

2.0

L > 97; R > 97 dB nHL

 

/

CI (R, 2.5y)

c.648dupG (p.Leu217ValfsTer9)

08

8–1

3.5

14.8

L 115; R 116 dB HL

C

/

CI (R, 15.0y)

c.845G > A (p.Arg282Gln) e

 

8–2

3.0

12.0

L 107.5; R 105 dB HL

C

Cataract

CI (R, 12.0y)

c.845G > A (p.Arg282Gln)e

09

9–1

0.6

0.9

L 70; R > 97 dB nHL

A

Developmental retardation

CI (R, 1.2y) + HA (L, 0.9y)

c.171G > A (p.Trp57*)d

10

10–1

0.4

2.0

L > 97; R > 97 dB nHL

A

/

CI (R, 3.0y)

g.81839469_82004841del

 

10–2

0.4

2.0

L > 97; R > 97 dB nHL

A

/

CI (R, 2.4y)

g.81839469_82004841del

11

11–1

0.3

0.7

L 65; R 60 dB nHL

A

/

HA (L + R, 0.7y)

c.946C > T (p.Gln316*)e

12

12–1

0.4

0.7

L 50; R 55 dB nHL

B

/

HA (L + R, 1.0y)

c.903_912 delins TGCCA (p.Lys302AlafsTer25)e

13

13–1

0.3

4.5

L 75; R 60 dB nHL

B

/

HA (L + R, 4.5y)

c.614_616delGAA (p.Arg205del)d

14

14–1

0.5

0.6

L 65; R 60 dB nHL

A

Atrial septal defect

HA (L + R, 0.6y)

g.81807331_81887213deld

  1. adB nHL: click-ABR results, dB HL: PTA results
  2. bCI: cochlear implantation
  3. cHA: hearing aid
  4. dDe novo mutation
  5. eNovel variant in POU3F4 coding sequence